Canonical Allele Identifier: CA6044382

Gene: AHNAK

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62520870C>T , CM000673.2:g.62520870C>T	GRCh38
NC_000011.9:g.62288342C>T , CM000673.1:g.62288342C>T	GRCh37
NC_000011.8:g.62044918C>T	NCBI36
NG_051822.1:g.30991G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378024.9:c.13547G>A MANE Select	ENSP00000367263.4:p.Ser4516Asn
ENST00000257247.11:c.342+14133G>A	ENSP00000257247.7:n.342+14133G>A
ENST00000378024.8:c.13547G>A	ENSP00000367263.4:p.Ser4516Asn
ENST00000530124.5:c.342+14133G>A	ENSP00000433789.1:n.342+14133G>A
ENST00000533365.5:c.342+14133G>A	ENSP00000433635.1:n.342+14133G>A
NM_001620.2:c.13547G>A	NP_001611.1:p.Ser4516Asn
NM_024060.3:c.342+14133G>A	NP_076965.2:n.342+14133G>A
XM_005274240.1:c.13547G>A	XP_005274297.1:p.Ser4516Asn
XM_005274241.1:c.13547G>A	XP_005274298.1:p.Ser4516Asn
XM_005274242.1:c.13163G>A	XP_005274299.1:p.Ser4388Asn
XM_005274243.1:c.13163G>A	XP_005274300.1:p.Ser4388Asn
XM_005274244.1:c.13163G>A	XP_005274301.1:p.Ser4388Asn
XM_005274245.1:c.12191G>A	XP_005274302.1:p.Ser4064Asn
XM_011545249.1:c.13163G>A	XP_011543551.1:p.Ser4388Asn
XM_011545250.1:c.8897G>A	XP_011543552.1:p.Ser2966Asn
NM_001346445.1:c.13547G>A	NP_001333374.1:p.Ser4516Asn
NM_001346446.1:c.13547G>A	NP_001333375.1:p.Ser4516Asn
XM_017018270.1:c.13346G>A	XP_016873759.1:p.Ser4449Asn
NM_001620.3:c.13547G>A MANE Select	NP_001611.1:p.Ser4516Asn
NM_001346445.2:c.13547G>A	NP_001333374.1:p.Ser4516Asn
NM_001346446.2:c.13547G>A	NP_001333375.1:p.Ser4516Asn
NM_024060.4:c.342+14133G>A	NP_076965.2:n.342+14133G>A